Missense mutations in the copper transporter gene ATP7A cause X-Linked distal hereditary motor neuropathy

Kennerson, M; Nicholson, G; Kaler, S; Kowalski, B; Mercer, Julian; Tang, J; Llanos, Roxana; Chu, S; Takata, R; Speck-Martins, C; Baets, J; Almeida-Souza, L; Fischer, D; Timmerman, V; Taylor, Philip; Scherer, S; Ferguson, T; Bird, T; De Jonghe, P; Feely, S; Shy, M; Garbern, J

mercer-missensemutations-2010.pdf (1.37 MB)

Missense mutations in the copper transporter gene ATP7A cause X-Linked distal hereditary motor neuropathy

journal contribution

posted on 2010-03-12, 00:00 authored by M Kennerson, G Nicholson, S Kaler, B Kowalski, Julian MercerJulian Mercer, J Tang, Roxana LlanosRoxana Llanos, S Chu, R Takata, C Speck-Martins, J Baets, L Almeida-Souza, D Fischer, V Timmerman, Philip Taylor, S Scherer, T Ferguson, T Bird, P De Jonghe, S Feely, M Shy, J Garbern

Missense mutations in the copper transporter gene ATP7A cause X-Linked distal hereditary motor neuropathy

History

Journal

American journal of human genetics

Volume

86

Issue

3

Pagination

342 - 352

Publisher

Cell Press

Location

Cambridge, Mass.

Publisher DOI

https://doi.org/10.1016/j.ajhg.2010.01.027

ISSN

0002-9297

eISSN

1537-6605

Language

eng

Publication classification

C1.1 Refereed article in a scholarly journal

Copyright notice

2010, Elsevier

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Keywords

Science & Technology Life Sciences & Biomedicine Genetics & Heredity SPINAL MUSCULAR-ATROPHY MARIE-TOOTH-DISEASE MENKES-DISEASE NEURON DISEASE CANDIDATE GENE WILSON TRAFFICKING EXPRESSION ATPASES ENCODES

Missense mutations in the copper transporter gene ATP7A cause X-Linked distal hereditary motor neuropathy

History

Journal

Volume

Issue

Pagination

Publisher

Location

Publisher DOI

ISSN

eISSN

Language

Publication classification

Copyright notice

Usage metrics

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Keywords

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